Phenotype #0000243107

Individual ID	00324598
Associated disease	CMT
Phenotype details	EMG right median motor nerve conduction velocity (abductor pollicis brevis muscle) forearm 37 m/s; left ulnar motor nerve conduction velocity (abductor digiti minimi muscle) forearm 35 m/s; upper arm 50 m/s. No compound muscle action potentials peroneal (both sides) and left tibial nerve. Very low to non-recordable sensory nerve action potentials in arms and legs. Signs of denervation in the distal leg muscles and signs of reinnervation in distal and proximal arm and leg muscles; conclusion severe sensorimotor polyneuropathy with axonal and demyelinating features.
Diagnosis/Initial	Charcot-Marie-Tooth disease
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	CMT2N
Age/Examination	23y (23 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-12-20 14:20:17 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD